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Wednesday, 22 October 2014

Lorelei and Avery's Story.

This is Lorelei at birth, with blisters on her left arm (and inner left calf, not shown) she is 13 months now with no other symptoms to date.. she was born with the blisters which baffled the doctors. They immediately assumed herpes, which both her father and myself were negative for to begin with, and she was a C-section birth. She went directly to the NICU where she spent 10 days undergoing every test under the sun (which came up negative for herpes)and was treated intravenously for herpes. After 7 days the blisters began to fade almost completely away and reappeared on day 10. We were able to take her home on the pretenses that we see an infectious disease Dr. and a dermatologist. At 13 days old we saw the dermatologist and she had a biopsy done. At 15 days old we saw the infectious disease Dr. who immediately dismissed the possibility of herpes or any other infectious disease. 2 weeks later we received the diagnosis via a phone call from the dermatologist who explained that it was a rare genetic disorder, we needed to see a genetics Dr. immediately, and if I wanted to know more I could go ahead and google it because she had never seen it before. Needless to say I did just those things, and was able to get an appointment with the leading genetics Dr. in Tampa Bay. We found out that Lorelei's IP was a spontaneous mutation, and what we may be able expect. We see a number of specialists, but so far everything has been okay. Lorelei just turned 13 months old and we hope and pray for the best every single day. We have found great comfort in the fact that we are not alone, because it felt that way initially. We are so very thankful for all of the IP families sharing support and spreading awareness.

This is Avery after having her eyes dilated at the ophthalmologist. She is 11 months old and has swirls, 4 teeth have come in so far and 1 looks like it may be pegged but so far skin and teeth are her only symptoms.